Early life seizures and epileptic spasms in STXBP1-related disorders.

ABSTRACT:

Background and objectives

Individuals with disease-causing variants in STXBP1 frequently have epilepsy onset in the first year of life with a variety of seizure types, including epileptic spasms. However, the impact of early-onset seizures and anti-seizure medication (ASM) on the risk of developing epileptic spasms and impact on their trajectory is poorly understood, limiting informed and anticipatory treatment, as well as trial design.

Methods

We retrospectively reconstructed seizure and medication histories in weekly intervals for individuals with STXBP1-related disorders with epilepsy onset in the first year of life and quantitatively analyzed longitudinal seizure histories and medication response.

Results

We included 61 individuals with early onset s

SUBMITTER: Thalwitzer KM 

PROVIDER: S-EPMC10327252 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature